SPRYD7 SPRY domain containing 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPRYD7provided by HGNC
Official Full Name: SPRY domain containing 7provided by HGNC
Primary source: HGNC:HGNC:14297
See related: Ensembl:ENSG00000123178 MIM:607866; AllianceGenome:HGNC:14297
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CLLD6; C13orf1
Expression: Ubiquitous expression in lung (RPKM 5.0), brain (RPKM 4.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q14.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (49912702..49936340, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (49133330..49156970, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (50486838..50510476, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional Proteomics Characterization of the Role of SPRYD7 in Colorectal Cancer Progression and Metastasis.
Title: Functional Proteomics Characterization of the Role of SPRYD7 in Colorectal Cancer Progression and Metastasis.
In the sex-combined analyses, we identified one novel locus (TCF7L2/HABP2) for WHRadjBMI and eight previously established loci at P < 5x10-8: seven for BMI, and one for WHRadjBMI in African ancestry individuals. An additional novel locus (SPRYD7/DLEU2) was identified for WHRadjBMI when combined with European GWAS.
Title: Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

17663ft (e-PCR)
- UniSTS:527888

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

D13S1168 (e-PCR)
- UniSTS:3071

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: SPRY domain-containing protein 7

Names: CLL deletion region gene 6 protein; chronic lymphocytic leukemia deletion region gene 6 protein; epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001127482.3 → NP_001120954.1 SPRY domain-containing protein 7 isoform 2

See identical proteins and their annotated locations for NP_001120954.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) omits an in-frame coding exon resulting in a shorter protein isoform (2) compared to isoform 1.

Source sequence(s)

AF334405, AK290576, BM684781

Consensus CDS

CCDS45046.1

UniProtKB/TrEMBL

B2RE68

Related

ENSP00000367437.2, ENST00000378195.6

Conserved Domains (1) summary

cd12880
Location:8 → 157

SPRYD7; SPRY domain-containing protein 7
NM_020456.4 → NP_065189.1 SPRY domain-containing protein 7 isoform 1

See identical proteins and their annotated locations for NP_065189.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the predicted full length protein isoform (1).

Source sequence(s)

AF055016, AF334405, BC022519, BM684781, DN992366

Consensus CDS

CCDS9422.1

UniProtKB/Swiss-Prot

A8K3G1, O60648, Q5W111, Q8TBG8, Q96T69

UniProtKB/TrEMBL

A0A024RDT6, B2RE68

Related

ENSP00000354774.3, ENST00000361840.8

Conserved Domains (1) summary

cd12880
Location:35 → 196

SPRYD7; SPRY domain-containing protein 7

RNA

NR_023351.3 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) omits two coding exons resulting in a frameshift and premature stop codon. The transcript is predicted to be a candidate for nonsense-mediated decay.

Source sequence(s)

AF334405, BM684781, DA388141, DN992366